Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | MAP2K1 |
| Variant | L115P |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | MAP2K1 L115P lies within the protein kinase domain of the Map2k1 protein (UniProt.org). L115P confers a gain of function on the kinase activity of the Map2k1 protein, as demonstrated by increased autophosphorylation in cell culture (PMID: 29753091) and increased basal kinase activity in an in vitro assay (PMID: 12370306), and is also associated with decreased binding and resistance to Mek inhibitors (PMID: 12370306, PMID: 19915144, PMID: 26399658). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 L115P |
| Transcript | NM_002755.4 |
| gDNA | chr15:g.66436798T>C |
| cDNA | c.344T>C |
| Protein | p.L115P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_002755 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
| XM_017022411.2 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
| XM_017022411.3 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
| XM_017022411 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
| NM_002755.4 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
| NM_002755.3 | chr15:g.66436798T>C | c.344T>C | p.L115P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| MAP2K1 L115P | gain of function | |
| BRAF V600E MAP2K1 L115P |